Case of an unreported genetic variant of salt losing 3-β-hydroxysteroid dehydrogenase deficiency [0.03%]
一例未报道的盐耗损型3-β羟基类固醇脱氢酶缺乏症基因型病例报告
Einas H Alkhatib,Stacie D Adams,Emily R Miller
Einas H Alkhatib
Salt losing 3-β-hydroxysteroid dehydrogenase deficiency (HSD3B2) is a rare form of congenital adrenal hyperplasia, seen in G; p.His232Asp). This patient was referred to pediatric endocrinology and pediatric biochemical genetics following ...
A diagnostic challenge in an unresponsive refugee child improving with neurosurgery-a case report [0.03%]
一名无反应难民儿童的诊断挑战及其在神经外科手术后的改善——病例报告
George Makris,Nefeli Papageorgiou,Dimitrios Panagopoulos et al.
George Makris et al.
An unresponsive paediatric patient may present a diagnostic challenge for health professionals, as rapid identification of the cause is needed to provide proper interventions. The following report details a challenging diagnosis of unrespon...
I cannot picture it in my mind: acquired aphantasia after autologous stem cell transplantation for multiple myeloma [0.03%]
我无法在脑海中想象它：自体干细胞移植治疗多发性骨髓瘤后获得的失想象力症
Adam L Bumgardner,Kyle Yuan,Alden V Chiu
Adam L Bumgardner
Aphantasia, the loss of mental imagery, is a rare disorder and even more infrequent when acquired. No previous cases have been identified that were caused by transplant-related treatment. We describe a case of acquired aphantasia in a 62-ye...
Halimah Abu Bakar Sidek,Yong Guang Teh,Anithaa Tangaperumal et al.
Halimah Abu Bakar Sidek et al.
Congenital neonatal pyriform aperture stenosis (CNPAS) is a rare but potentially lethal condition that causes respiratory distress. The characteristic narrowing of the pyriform aperture along with other associated craniofacial dysmorphism i...
Non-Hodgkin lymphoma of bone of the femur and humerus: a case report and review of the literature [0.03%]
肱骨和股骨的非霍奇金淋巴瘤一例报告及文献复习
Alex Mremi,Jeremia J Pyuza,Bilal Ahmad et al.
Alex Mremi et al.
Lymphoma of bone is a rare neoplasm composed of malignant lymphoid cells, producing a tumefactive lesion within bone. We report a 13-year-old male who presented with progressively increasing swellings at the right shoulder and right mid-thi...
A rare case report of prune belly syndrome with malnutrition [0.03%]
一例先天性 prune belly 综合征合并营养不良的罕见病例报告
Turyalai Hakimi,Mohammad Akbar Ibrahimi
Turyalai Hakimi
Prune belly syndrome (PBS) is a rare congenital malformation of unknown etiology characterized by a triad of deficient abdominal wall musculature, undescended testicles and urinary tract malformations. Most of the patients have pulmonary, c...
Case Report-Staged brachytherapy achieving complete metabolic response in unresectable oligometastatic colorectal cancer to the liver [0.03%]
分期施用近距离放射治疗可使不可手术的肝寡转移性结直肠癌达到完全代谢反应（病例报告）
Gokula Kumar Appalanaido,Sheikh Izzat Bin Zainal-Abidin Bahajjaj,Syadwa Abdul Shukor et al.
Gokula Kumar Appalanaido et al.
Liver is the most common site for metastasis from colorectal cancer (CRC). Non-surgical treatment options for oligometastatic CRC confined to the liver which represents an intermediate state in the metastatic cascade are fast expanding. Cur...
Leydig cell hypoplasia type 1 diagnosed in early childhood with inactivating mutation in LHCGR gene [0.03%]
LHCGR基因失活突变导致的儿童早期诊断的I型曲细精管细胞发育不全
Fatma Özgüç Çömlek,Raif Yıldız,Fatma Seyrek et al.
Fatma Özgüç Çömlek et al.
Leydig cell aplasia/hypoplasia is an autosomal recessive condition. In its complete form, these patients are 46XY but are cryptorchid and phenotypically female. Most cases reported in literature presented with in adolescence with pubertal d...
Mario Lepore,Niall Campbell
Mario Lepore
Sertraline, a selective serotonin reuptake inhibitor, is commonly prescribed for the treatment of moderate-to-severe depression. We report a case of a 36-year-old male taking sertraline for 7 weeks prior to developing a dry cough, pleuritic...
A challenging case of arrhythmogenic right ventricular cardiomyopathy presenting as fulminant myocarditis [0.03%]
挑战性病例：以急性心肌炎形式表现的右室心肌病
Mohammad Mahdavi,Leila Hosseini,Kambiz Mozzaffari et al.
Mohammad Mahdavi et al.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is known as a primary genetic heart disease that leading to the myocardial deposition of fibrofatty tissue in right ventricular (RV) wall. Sometimes, it occurs in the left ventricular (...